2000
DOI: 10.1006/geno.2000.6350
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Genomic Structure of the Mouse Ap3b1 Gene in Normal and Pearl Mice

Abstract: The mouse hypopigmentation mutant pearl is an established model for Hermansky-Pudlak syndrome (HPS), a genetically heterogenous disease with misregulation of the biogenesis/function of melanosomes, lysosomes, and platelet dense granules. The pearl (Ap3b1) gene encodes the ␤3A subunit of the AP-3 adaptor complex, which regulates vesicular trafficking. The genomic structure of the normal Ap3b1 gene includes 25 introns and a putative promoter sequence. The original pearl (pe) mutation, which has an unusually high… Show more

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Cited by 24 publications
(15 citation statements)
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“…As noted above and in studies from other groups, HPS mouse models do not spontaneously develop fibrosis (37). However, they consistently manifest exaggerated sensitivity to fibrogenic, injurious, and apoptotic stimuli, and these exaggerated injury responses are believed to lead to the pulmonary fibrosis that follows (14,29,34,(37)(38)(39)(40)(41)(42). Our studies add to this body of data by demonstrating, for the first time to our knowledge, that the CHI3L1 axis plays an essential role in the regulation of epithelial apoptosis and that this response is blunted in pale ear mice.…”
Section: Il-13rα2 Membrane Expression Is Decreased In Hps Lung Tissuesmentioning
confidence: 75%
“…As noted above and in studies from other groups, HPS mouse models do not spontaneously develop fibrosis (37). However, they consistently manifest exaggerated sensitivity to fibrogenic, injurious, and apoptotic stimuli, and these exaggerated injury responses are believed to lead to the pulmonary fibrosis that follows (14,29,34,(37)(38)(39)(40)(41)(42). Our studies add to this body of data by demonstrating, for the first time to our knowledge, that the CHI3L1 axis plays an essential role in the regulation of epithelial apoptosis and that this response is blunted in pale ear mice.…”
Section: Il-13rα2 Membrane Expression Is Decreased In Hps Lung Tissuesmentioning
confidence: 75%
“…HPS mice with homozygous mutations on a congenic C57BL/6J background were used in these studies (7,(41)(42)(43)(44), with C57BL/6J WT mice from Jackson Laboratories or littermate controls as indicated. The HPS2 model was predominantly utilized for studies relating to our previously published epithelial-specific correction model, with mice on the HPS2 background (7), while we also performed key confirmatory studies in the HPS1 model, as HPS1 is the most common subtype associated with fibrosis in humans.…”
Section: Methodsmentioning
confidence: 99%
“…Ten of the currently available HPS mouse models, including the HPS1 "Pale Ear" and HPS2 "Pearl" mouse models used in this study, are naturally occurring and are maintained as congenic mutants on the C57BL/6J inbred strain. The gene product of HPS2 in Pearl mice and humans with HPS2 is the ␤3A subunit of the adaptor protein-3 (AP-3) complex, a heterooligomer of four subunits (3a, 3, ␦, and ␤3) that functions in organelle biogenesis and protein trafficking (9). Mutations in individual AP-3 subunits result in instability and ubiquitinmediated degradation of the entire AP-3 complex, which leads to abnormalities in intracellular trafficking in a variety of cell types and organ systems.…”
Section: Clinical Relevancementioning
confidence: 99%